Variant #0000517932 (NC_000003.11:g.132230013G>C, DNAJC13(NM_015268.3):c.5218G>C)

Chromosome 3
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.132230013G>C
DNA change (hg38) g.132511169G>C
Published as DNAJC13(NM_001329126.1):c.5233G>C (p.E1745Q), DNAJC13(NM_015268.3):c.5218G>C (p.(Glu1740Gln))
ISCN -
DB-ID DNAJC13_000057 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00118 View details
Owner VKGL-NL_Leiden
Database submission license No license selected
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DNAJC13 NM_015268.3 -?/. - c.5218G>C r.(?) p.(Glu1740Gln)